儿童失神癫痫CACNA1 H基因突变筛查和分析  

Screening and analysis on variants in CACAN1H gene in childhood absence epilepsy

作　　者：梁建民[1] 张月华[1] 王菊莉[1] 潘虹[1] 吴沪生[2] 许克铭[3] 刘晓燕[1] 姜玉武[1] 沈岩[4] 吴希如[1] 

机构地区：[1]北京大学第一医院儿科 [2]北京市儿童医院神经科,北京100045 [3]首都儿科研究所神经科,北京100020 [4]中国协和医科大学基础医学研究所国家医学分子生物学实验室,北京100005

出　　处：《吉林大学学报（医学版）》2007年第3期533-537,共5页Journal of Jilin University：Medicine Edition

基　　金：国家高技术研究发展计划(863计划)资助课题(2002BA711A07);国家自然科学基金资助课题(30371494);北京大学"十五"资助;"211工程""资助课题(205);中国博士后基金资助课题(2005037033)

摘　　要：目的：明确T型钙通道CACNA1H基因变异与儿童失神癫痫（CAE）的关系。方法：对100个中国汉族CAE核心家系CACNA1 H基因的外显子6-12及其相邻的部分内含子进行PCR产物测序、基因突变筛查和分析。结果：仅在32例CAE患儿中发现14个序列变异，包括2个错义突变、3个同义突变和9个内含子变异，其中12个为新发现的变异。在191例性别匹配的正常对照中未发现这些变异。位于第11内含子的单核苷酸多态性（SNPs）位点52037C〉T在17例彼此无亲缘关系CAE患儿中出现，且在CAE核心家系中存在明显的传递不平衡（χ^2=9.783，P=0.00176）。结论：CACNA1H基因可能是中国汉族CAE的重要易感基因。Objective To identify the relationship between the CACNA1H gene and childhood absence epilepsy （CAE）. Methods Exons 6 to 12 of CACNA1H gene were sequenced in 100 CAE trios of Han population in China. Variants in these regions were then analyzed. Results Fourteen variants were identified only in 32 CAE patients that were not present in 191 normal gender-matched controls. Twelve of them had not been previously reported. These 14 variants included 2 nonsynonymous variants, 3 synonymous variants, 9 intronic variants, including a single nucleotide polymorphism （SNP） 52037C 〉 T in intronll found in 17 CAE patients. The result of transmission disequilibrium test （TDT） indicated that 52037C〉 T in intronll was in significant transmission disequilibrium in CAE trios （X^2=9. 783, P=0. 001 76）. Conclusion CACNA1H is a susceptibility gene for CAE in the Chinese Han population.

关 键 词：癫痫 钙通道 T型 基因转变 多态性 单核苷酸 

分 类 号：R749.17[医药卫生—神经病学与精神病学] Q754[医药卫生—临床医学]